Breast and thyroid cancers, several colorectal, ovarian, urothelial and renal cancers along with a few pancreatic and liver cancers displayed weak to moderate cytoplasmic positivity. Remaining cancers were generally negative.
This gene is encodes a cytoplasmic protein with three cytoskeletal-associated protein-glycine-conserved (CAP-GLY) domains that functions as a deubiquitinating enzyme. Mutations in this gene have been associated with cylindromatosis, multiple familial trichoepithelioma, and Brooke-Spiegler syndrome. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]